Tokuchi Shusuke, Kawano Toshihiro, Ntege Edward Hosea, Murahashi Makoto, Ide Kentaro, Maruyama Nobuyuki, Suzuki Risako, Takai-Nabeta Mirei, Nabeta Tsuyoshi, Tanaka Hideo, Shimizu Yusuke, Nakamura Hiroyuki
Department of Oral and Maxillofacial Surgery, Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nakagami, Nishihara, Okinawa, 903-0215, Japan.
Plastic and Reconstructive Surgery, Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nakagami, Nishihara, Okinawa, 903-0215, Japan.
J Med Case Rep. 2024 Dec 20;18(1):626. doi: 10.1186/s13256-024-04948-8.
Adult hypophosphatasia is an uncommon inherited disorder of mineral homeostasis affecting bone. It arises from mutations within the Alkaline Phosphatase, Biomineralization Associated (ALPL) gene, which encodes tissue-nonspecific alkaline phosphatase. Because of its low prevalence and non-specific clinical manifestations, underdiagnosis and misdiagnosis are frequent, particularly in Asian populations.
We present a case of a 38-year-old Japanese male diagnosed with adult hypophosphatasia following consecutive tooth loss during orthodontic treatment. Genetic analysis revealed a compound heterozygous mutation within the ALPL gene. The patient remained asymptomatic until orthodontic treatment, suggesting that increased mechanical stress overwhelmed residual enzyme activity, triggering the hypophosphatasia symptoms. Asfotase Alfa enzyme replacement therapy improved healing following tooth extraction.
This case highlights the significance of including adult hypophosphatasia in the differential diagnosis for obscure dental complications arising during orthodontic procedures, particularly in Asian patients where certain ALPL variants may be more prevalent. Effective diagnosis and management of adult hypophosphatasia necessitate collaboration between orthodontic practitioners and medical specialists. Improved awareness and a multidisciplinary approach are crucial for timely diagnosis and successful intervention.
成人低磷酸酯酶症是一种罕见的影响骨骼的矿物质稳态遗传性疾病。它由碱性磷酸酶、生物矿化相关（ALPL）基因突变引起，该基因编码组织非特异性碱性磷酸酶。由于其患病率低且临床表现不特异，漏诊和误诊很常见，尤其是在亚洲人群中。
我们报告一例38岁日本男性病例，该患者在正畸治疗期间连续牙齿脱落，随后被诊断为成人低磷酸酯酶症。基因分析显示ALPL基因存在复合杂合突变。该患者在正畸治疗前一直无症状，这表明增加的机械应力超过了残余酶活性，从而引发了低磷酸酯酶症症状。阿法骨化醇酶替代疗法改善了拔牙后的愈合情况。
本病例强调了在正畸过程中出现的不明原因牙齿并发症的鉴别诊断中纳入成人低磷酸酯酶症的重要性，特别是在某些ALPL变体可能更普遍的亚洲患者中。成人低磷酸酯酶症的有效诊断和管理需要正畸从业者和医学专家之间的合作。提高认识和采用多学科方法对于及时诊断和成功干预至关重要。
